Canonical Allele Identifier: CA1087450409
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113902264
gnomAD v3: 6-31269447-T-A
gnomAD v4: 6-31269447-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269447T>A , CM000668.2:g.31269447T>A GRCh38
NC_000006.11:g.31237224T>A , CM000668.1:g.31237224T>A GRCh37
NC_000006.10:g.31345203T>A NCBI36
NG_029422.2:g.7685A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1048+46A>T MANE Select ENSP00000365402.5:n.1048+46A>T
ENST00000376228.9:c.1048+46A>T ENSP00000365402.5:n.1048+46A>T
ENST00000376237.8:c.*635+46A>T ENSP00000365412.4:n.*635+46A>T
ENST00000383329.7:c.1066+46A>T ENSP00000372819.3:n.1066+46A>T
ENST00000466892.5:n.220A>T
ENST00000470363.5:n.806+46A>T
ENST00000487245.5:n.1407+46A>T
NM_002117.5:c.1048+46A>T NP_002108.4:n.1048+46A>T
NM_002117.6:c.1048+46A>T MANE Select NP_002108.4:n.1048+46A>T